Neonatal-onset T − B − NK + severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3
Author:
Publisher
Elsevier BV
Subject
Immunology,Immunology and Allergy
Reference9 articles.
1. Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels;Sassi;J Allergy Clin Immunol,2014
2. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment;Zhang;J Allergy Clin Immunol,2014
3. Extreme hyperimmunoglobulinemia E and undue susceptibility to infection;Buckley;Pediatrics,1972
4. Identification of human phosphoglucomutase 3 (PGM3) as N-acetylglucosamine-phosphate mutase (AGM1);Pang;Ann Hum Genet,2002
5. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia;Stray-Pedersen;Am J Hum Genet,2014
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